Skip to main content
SpringerLink
Log in

Advances in the Diagnosis and Management of Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

  • Invasive Electrophysiology and Pacing (EK Heist, Section Editor)
  • Published:
Current Cardiology Reports Aims and scope Submit manuscript

Abstract

Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is an inherited cardiomyopathy characterized by ventricular arrhythmias, right ventricular dysfunction, and sudden cardiac death. Since the first description of ARVD/C in 1982, there have been major advances in the diagnosis and management of the disease. For instance, the discovery of desmosomal abnormalities as a genetic basis for ARVD/C; the importance of proband status and ventricular ectopy for risk stratification of patients at risk for sudden cardiac death; and the critical role that exercise plays in the development and progression of ARVD/C, just to name a few. From a treatment perspective, the placement of implantable cardioverter defibrillators in those at risk for sudden cardiac death and ablation techniques have also evolved over time. In 2010, an update of the 1994 Task Force Diagnostic criteria for ARVD/C was published with the hope to increase diagnostic sensitivity. This update incorporates new knowledge and technology to assess structural cardiac abnormalities and is the standard for diagnosis today.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1

Similar content being viewed by others

References

Papers of particular interest, published recently, have been highlighted as: •• Of major importance

  1. Marcus FI, Fontaine GH, Guiraudon G, et al. Right ventricular dysplasia: a report of 24 adult cases. Circulation. 1982;65(2):384–98.

    Article  CAS  PubMed  Google Scholar 

  2. Den Haan AD, Tan BY, Zikusoka MN, et al. Comprehensive desmosome mutation analysis in North Americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circ Cardiovasc Genet. 2009;5:428–35.

    Article  Google Scholar 

  3. Groeneweg J, Bhonsale A, James C, et al. Clinical presentation, long-term follow-up, and outcomes of 1001 arrhythmogenic right ventricular dysplasia/cardiomyopathy patients and family members. Circ Genet. 2015;8(3):437–46.

    Article  CAS  Google Scholar 

  4. Peters S, Trummel M, Meyners W. Prevalence of right ventricular dysplasia: cardiomyopathy in a non-referral hospital. Int J Cardiol. 2004;97:499–501.

    Article  PubMed  Google Scholar 

  5. Dalal D, Nasir K, Bomma C, et al. Arrhythmogenic right ventricular dysplasia: a United States experience. Circulation. 2005;112(25):3823–32.

    Article  PubMed  Google Scholar 

  6. Te Riele AS, Sawant AC, James C, et al. Arrhythmogenic right ventricular dysplasia/cardiomyopathy in the pediatric population clinical characterization and comparison with adult-onset disease. JACCCEP. 2015;1(6):551–60.

    Google Scholar 

  7. Jain A, Tandri H, Calkins H, et al. Role of cardiovascular magnetic resonance imaging in arrhythmogenic right ventricular dysplasia. J Cardiovasc Magn Reson. 2008;10(1):10–32.

    Article  Google Scholar 

  8. Rastegar N, Burt JR, Corona-Villalobos CP, et al. Cardiac MR findings and potential diagnostic pitfalls in patients evaluated for arrhythmogenic right ventricular cardiomyopathy. Radiographics. 2014;34(6):1553–70.

    Article  PubMed  Google Scholar 

  9. Rastegar N, Zimmerman SL, Te Riele AS, et al. Spectrum of biventricular involvement on CMR among carriers of ARVD/C-associated mutations. JACC Cardiovasc Imaging. 2015;8(7):863–4.

    Article  PubMed  Google Scholar 

  10. Bhonsale A, Groeneweg JA, James CA, et al. Impact of genotype on clinical course in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated mutation carriers. Eur Heart J. 2015;36(14):847–55.

    Article  PubMed  Google Scholar 

  11. Protonotarios N, Tsatsopoulou A. Naxos disease and Carvajal syndrome: cardiocutaneous disorders that highlight the pathogenesis and broaden the spectrum of arrhythmogenic right ventricular cardiomyopathy. Cardiovasc Pathol. 2004;13(4):185–94.

    Article  CAS  PubMed  Google Scholar 

  12. Marcus FI, McKenna WJ, Sherrill D, et al. Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the task force criteria. Circulation. 2010;13:1533–41.

    Article  Google Scholar 

  13. Bomma C, Rutberg J, Tandri H, et al. Misdiagnosis of arrhythmogenic right ventricular dysplasia (ARVD). J Cardiovasc EP. 2004;15(3):300–6.

  14. Calkins H. Arrhythmogenic right ventricular dysplasia/cardiomyopathy—three decades of progress. Circ J. 2015;79(5):901–13.

  15. Calkins H. Arrhythmogenic right ventricular dysplasia. Curr Probl Cardiol Mar. 2013;38:103–23.

  16. Bhonsale A, James CA, Tichnell C, et al. Incidence and predictors of implantable cardioverter-defibrillator therapy in patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy undergoing implantable cardioverter-defibrillator implantation for primary prevention. J Am Coll Cardiol. 2011;14:1485–96.

    Article  Google Scholar 

  17. Piccini JP, Dalal D, Roguin A, et al. Predictors of appropriate implantable defibrillator therapies in patients with arrhythmogenic right ventricular dysplasia. Heart Rhythm. 2005;2(11):1188–94.

    Article  PubMed  Google Scholar 

  18. Corrado D, Wichter T, Link MS, et al. Treatment of arrhythmogenic right ventricular cardiomyopathy/dysplasia: an international task force consensus statement. Eur Heart J. 2015;36(46):3227–37. This document provides a guide to clinical practice for the management of ARVD/C based on recommendations and levels of evidence of specific management options.

    PubMed  PubMed Central  Google Scholar 

  19. Philips B, Madhavan S, James C, et al. High prevalence of catecholamine-facilitated focal ventricular tachycardia in patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circ Arrhythm Electrophysiol. 2013;6(1):160–6.

    Article  CAS  PubMed  Google Scholar 

  20. Denis A, Sacher F, Derval N, et al. Diagnostic value of isoproterenol testing in arrhythmogenic right ventricular cardiomyopathy. Circ Arrhythm Electrophysiol. 2014;7(4):590–7.

    Article  CAS  PubMed  Google Scholar 

  21. Dalal D, Jain R, Tandri H, et al. Longterm efficacy of catheter ablation of ventricular tachycardia in patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy. J Am Coll Cardiol. 2007;50:432–40.

    Article  PubMed  Google Scholar 

  22. Philips B, Madhavan S, James C, et al. Outcomes of catheter ablation of ventricular tachycardia in arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C). Circ Arrhythm Electrophysiol. 2012;5:499–505.

    Article  PubMed  Google Scholar 

  23. Philips B, Te Riele AS, Sawant A, et al. Outcomes and VT recurrence characteristics after epicardial ablation of ventricular tachycardia in arrhythmogenic right ventricular dysplasia/cardiomyopathy. Heart Rhythm. 2015;12:716–25.

    Article  PubMed  Google Scholar 

  24. Corrado D, Basso C, Rizzoli G, et al. Does sports activity enhance the risk of sudden death in adolescents and young adults? J Am Coll Cardiol. 2003;42(11):1959–63.

    Article  PubMed  Google Scholar 

  25. La Gerche A, Burns AT, Mooney DJ, et al. Exercise‐induced right ventricular dysfunction and structural remodelling in endurance athletes. Eur Heart J. 2012;33:998–1006.

    Article  PubMed  Google Scholar 

  26. Saberniak J, Hasselberg NE, Borgquist R, et al. Vigorous physical activity impairs myocardial function in patients with arrhythmogenic right ventricular cardiomyopathy and in mutation positive family members. Eur J Heart Fail. 2014;16(12):1337–44.

    Article  PubMed  PubMed Central  Google Scholar 

  27. Ruwald AC, Marcus F, Estes III NA, et al. Association of competitive and recreational sport participation with cardiac events in patients with arrhythmogenic right ventricular cardiomyopathy: results from the North American multidisciplinary study of arrhythmogenic right ventricular cardiomyopathy. Eur Heart J. 2015;36(27):1735–43.

    Article  PubMed  Google Scholar 

  28. James CA, Bhonsale A, Tichnell C, et al. Exercise increases age-related penetrance and arrhythmic risk in arrhythmogenic right ventricular dysplasia/cardiomyopathy associated desmosomal mutation carriers. J Am Coll Cardiol J Am Coll Cardiol. 2013;62(14):1290–7. This was the first study that evaluated the role of exercise in ARVD/C in patients that have a pathogenic desmosomal mutation.

    Article  PubMed  Google Scholar 

  29. Sawant AC, Bhonsale A, Te Riele AS, et al. Exercise has a disproportionate role in the pathogenesis of arrhythmogenic right ventricular dysplasia/cardiomyopathy in patients without desmosomal mutations. J Am Heart Assoc. 2014 Dec 16;3(6). This study showed that high intensity exercise also has an impact on the development of ARVD/C among patients without mutations and it negatively modifies cardiac structure and promotes arrhythmias.

  30. Sawant AC, Te Riele AS, Tichnell C, et al. Safety of American Heart Association-recommended minimum exercise for desmosomal mutation carriers. Heart Rhythm. 2016;13(1):199–20.

    Article  PubMed  Google Scholar 

  31. Maron BJ, Udelson JE, Bonow RO, et al. Eligibility and disqualification recommendations for competitive athletes with cardiovascular abnormalities: Task Force 3: hypertrophic cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy and other cardiomyopathies, and myocarditis: a scientific statement from the American Heart Association and American College of Cardiology. Circulation. 2015;132(22):e273–80.

    Article  PubMed  Google Scholar 

  32. Tedford RJ, James C, Judge DP, et al. Cardiac transplantation in arrhythmogenic right ventricular dysplasia/cardiomyopathy. J Am Coll Cardiol. 2012;59(3):289–90.

    Article  PubMed  PubMed Central  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Division of Cardiology, Johns Hopkins University, Baltimore, MD, USA

    Gabriela M. Orgeron & Hugh Calkins

  2. Johns Hopkins ARVD/C Program, Blalock 545, 600 N. Wolfe Street, Baltimore, MD, 21287, USA

    Gabriela M. Orgeron

  3. Johns Hopkins ARVD/C Program, 1800 Orleans Street/Zayed Tower 7125R, Baltimore, MD, 21287, USA

    Hugh Calkins

Authors
  1. Gabriela M. Orgeron
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Hugh Calkins
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Hugh Calkins.

Ethics declarations

Conflict of Interest

Dr. Gabriela and M. Orgeron have no conflict of interest.

Dr. Hugh Calkins is a consultant for St. Jude Medical and Medtronic. He also receives research support from St. Jude Medical and Boston Scientific.

Human and Animal Rights and Informed Consent

This article does not contain any studies with human or animal subjects performed by any of the authors.

Additional information

This article is part of the Topical Collection on Invasive Electrophysiology and Pacing

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Orgeron, G.M., Calkins, H. Advances in the Diagnosis and Management of Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy. Curr Cardiol Rep 18, 53 (2016). https://doi.org/10.1007/s11886-016-0732-y

Download citation

  • Published:

  • DOI: https://doi.org/10.1007/s11886-016-0732-y

Keywords

Search

Navigation